about
Molecular cloning and expression of a cDNA encoding human electron transfer flavoprotein-ubiquinone oxidoreductaseMitochondrial DNA polymerase W748S mutation: a common cause of autosomal recessive ataxia with ancient European originMulti-system neurological disease is common in patients with OPA1 mutationsDefective i6A37 modification of mitochondrial and cytosolic tRNAs results from pathogenic mutations in TRIT1 and its substrate tRNACombined enzyme defect of mitochondrial fatty acid oxidationInvestigation of a pathogenic mtDNA microdeletion reveals a translation-dependent deadenylation decay pathway in human mitochondriaCorrelation between genetic and geographic structure in EuropeGBA2 Mutations Cause a Marinesco-Sjögren-Like Syndrome: Genetic and Biochemical StudiesNovel SACS mutations identified by whole exome sequencing in a norwegian family with autosomal recessive spastic ataxia of Charlevoix-SaguenaySpastic paraplegia type 7 is associated with multiple mitochondrial DNA deletionsNovel SLC19A3 Promoter Deletion and Allelic Silencing in Biotin-Thiamine-Responsive Basal Ganglia EncephalopathyProgressive striatal necrosis associated with anti-NMDA receptor antibodies.An evaluation of the genetic-matched pair study design using genome-wide SNP data from the European population.A multicenter study on Leigh syndrome: disease course and predictors of survival.Facial vasculitic rash associated with intravenous immunoglobulin.OPA1 mutations cause cytochrome c oxidase deficiency due to loss of wild-type mtDNA molecules.Mutations in ABHD12 cause the neurodegenerative disease PHARC: An inborn error of endocannabinoid metabolism.Thyrotoxicosis and paraparesis in a young woman: case report and review of the literature.POLG1 mutations cause a syndromic epilepsy with occipital lobe predilection.A new mtDNA mutation showing accumulation with time and restriction to skeletal muscleIntracellular mitochondrial triplasmy in a patient with two heteroplasmic base changes116th ENMC international workshop: the treatment of mitochondrial disorders, 14th-16th March 2003, Naarden, The Netherlands.Genetic and hypoxic alterations of the microRNA-210-ISCU1/2 axis promote iron-sulfur deficiency and pulmonary hypertension.[Multiple sclerosis - a mitochondria-mediated disease?]Multiple defects of the mitochondrial respiratory chain in a mitochondrial encephalopathy (MERRF): a clinical, biochemical and molecular study.What is influencing the phenotype of the common homozygous polymerase-γ mutation p.Ala467Thr?Fatal infantile mitochondrial encephalomyopathy, hypertrophic cardiomyopathy and optic atrophy associated with a homozygous OPA1 mutation.Mitochondrial DNA sequence characteristics modulate the size of the genetic bottleneckMRI characterisation of adult onset alpha-methylacyl-coA racemase deficiency diagnosed by exome sequencing.Defective PITRM1 mitochondrial peptidase is associated with Aβ amyloidotic neurodegenerationNew treatments for mitochondrial disease-no time to drop our standards.Defective mitochondrial DNA homeostasis in the substantia nigra in Parkinson diseaseDefects of the respiratory chain.Ataxia in mitochondrial disorders.Mitochondrial diseases and epilepsy.EFNS review on the role of muscle biopsy in the investigation of myalgia.The presence of anaemia negatively influences survival in patients with POLG disease.Biochemical investigation of muscle disease.The clinical spectrum and natural history of early-onset diseases due to DNA polymerase gamma mutations.Clinical Features, Molecular Heterogeneity, and Prognostic Implications in YARS2-Related Mitochondrial Myopathy.
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description
hulumtues
@sq
onderzoeker
@nl
researcher
@en
հետազոտող
@hy
name
Laurence Bindoff
@ast
Laurence Bindoff
@en
Laurence Bindoff
@es
Laurence Bindoff
@nl
Laurence Bindoff
@sl
type
label
Laurence Bindoff
@ast
Laurence Bindoff
@en
Laurence Bindoff
@es
Laurence Bindoff
@nl
Laurence Bindoff
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prefLabel
Laurence Bindoff
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Laurence Bindoff
@en
Laurence Bindoff
@es
Laurence Bindoff
@nl
Laurence Bindoff
@sl
P106
P21
P31
P496
0000-0003-0988-276X